Incidental Mutation 'R4587:Trim72'
ID 344173
Institutional Source Beutler Lab
Gene Symbol Trim72
Ensembl Gene ENSMUSG00000042828
Gene Name tripartite motif-containing 72
Synonyms MG53, mitsugumin 53
MMRRC Submission 042006-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R4587 (G1)
Quality Score 209
Status Validated
Chromosome 7
Chromosomal Location 127603121-127610205 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127607164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 231 (D231G)
Ref Sequence ENSEMBL: ENSMUSP00000101855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081042] [ENSMUST00000106248]
AlphaFold Q1XH17
Predicted Effect probably benign
Transcript: ENSMUST00000081042
AA Change: D231G

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000079832
Gene: ENSMUSG00000042828
AA Change: D231G

DomainStartEndE-ValueType
RING 14 56 5.14e-7 SMART
BBOX 81 122 3.89e-7 SMART
coiled coil region 135 169 N/A INTRINSIC
coiled coil region 204 232 N/A INTRINSIC
PRY 288 341 6.48e-13 SMART
Pfam:SPRY 342 472 4.9e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106248
AA Change: D231G

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101855
Gene: ENSMUSG00000042828
AA Change: D231G

DomainStartEndE-ValueType
RING 14 56 5.14e-7 SMART
BBOX 81 122 3.89e-7 SMART
coiled coil region 135 169 N/A INTRINSIC
coiled coil region 204 232 N/A INTRINSIC
PRY 288 341 6.48e-13 SMART
Pfam:SPRY 344 465 1.7e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126205
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206216
Meta Mutation Damage Score 0.0777 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 100% (47/47)
MGI Phenotype PHENOTYPE: Mice with disruption of this gene display muscle pathologies that develop with age. Mice homozygous for a knock-out allele exhibit enhanced myogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16a T C 17: 35,320,063 (GRCm39) probably null Het
Adsl T C 15: 80,851,968 (GRCm39) probably null Het
Arhgap32 T C 9: 32,172,241 (GRCm39) S1674P probably benign Het
Cd244a T G 1: 171,405,447 (GRCm39) D277E probably benign Het
Ceacam23 C T 7: 17,620,149 (GRCm39) L18F possibly damaging Het
Ces1a A G 8: 93,751,932 (GRCm39) Y401H probably damaging Het
Chd9 G T 8: 91,763,134 (GRCm39) V2320F possibly damaging Het
Chrd A G 16: 20,557,325 (GRCm39) E670G possibly damaging Het
Ckap2 A G 8: 22,666,992 (GRCm39) S290P probably benign Het
Cluap1 T A 16: 3,751,680 (GRCm39) probably null Het
Col15a1 C T 4: 47,257,184 (GRCm39) T325M probably damaging Het
Cplane1 T C 15: 8,230,636 (GRCm39) I971T possibly damaging Het
Dnah5 T C 15: 28,304,745 (GRCm39) F1652S probably damaging Het
Dok6 T C 18: 89,319,320 (GRCm39) Q312R probably benign Het
Glis1 C A 4: 107,484,740 (GRCm39) H600N possibly damaging Het
Hivep1 A G 13: 42,309,704 (GRCm39) D648G probably benign Het
Kif22 A T 7: 126,632,052 (GRCm39) probably null Het
Lmtk3 A G 7: 45,443,504 (GRCm39) D729G possibly damaging Het
Mapk8ip3 G A 17: 25,123,761 (GRCm39) P587L probably damaging Het
Muc4 G C 16: 32,753,919 (GRCm38) R1265P probably benign Het
Myt1l A G 12: 29,960,800 (GRCm39) K1038E unknown Het
Nf1 T A 11: 79,426,863 (GRCm39) probably null Het
Nom1 T C 5: 29,656,163 (GRCm39) S843P possibly damaging Het
Or1e33 A G 11: 73,738,045 (GRCm39) I302T probably benign Het
Pex14 A G 4: 149,048,021 (GRCm39) probably benign Het
Ptcd1 T C 5: 145,091,531 (GRCm39) T523A possibly damaging Het
Rasip1 T C 7: 45,282,159 (GRCm39) V554A possibly damaging Het
Ric3 A T 7: 108,653,570 (GRCm39) probably null Het
Skint4 G A 4: 111,944,221 (GRCm39) C11Y probably damaging Het
Smr2 G A 5: 88,256,631 (GRCm39) R103H probably benign Het
Sobp T C 10: 43,034,020 (GRCm39) Y102C probably damaging Het
Taar7f T A 10: 23,926,473 (GRCm39) F356I probably damaging Het
Tbcd T C 11: 121,496,097 (GRCm39) V1044A possibly damaging Het
Tecpr1 C G 5: 144,149,408 (GRCm39) V340L probably damaging Het
Tle3 A G 9: 61,281,295 (GRCm39) I22V probably damaging Het
Trim30a G A 7: 104,084,851 (GRCm39) R120* probably null Het
Vmn2r59 T A 7: 41,695,648 (GRCm39) N255Y probably benign Het
Vps13a T C 19: 16,617,403 (GRCm39) T3002A probably damaging Het
Wnt7a A T 6: 91,343,324 (GRCm39) probably null Het
Zfp51 C T 17: 21,685,178 (GRCm39) Q598* probably null Het
Zfp617 A T 8: 72,683,003 (GRCm39) N51I probably damaging Het
Zfp977 A T 7: 42,229,614 (GRCm39) C304S probably damaging Het
Zic1 A G 9: 91,246,875 (GRCm39) S66P probably damaging Het
Other mutations in Trim72
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02195:Trim72 APN 7 127,607,136 (GRCm39) missense probably damaging 0.97
IGL02538:Trim72 APN 7 127,603,942 (GRCm39) missense probably damaging 1.00
IGL02794:Trim72 APN 7 127,603,704 (GRCm39) missense probably damaging 1.00
IGL03077:Trim72 APN 7 127,607,013 (GRCm39) missense probably benign
H8786:Trim72 UTSW 7 127,603,963 (GRCm39) missense probably damaging 0.99
R1101:Trim72 UTSW 7 127,609,419 (GRCm39) missense possibly damaging 0.94
R1711:Trim72 UTSW 7 127,603,757 (GRCm39) missense probably damaging 1.00
R1826:Trim72 UTSW 7 127,607,016 (GRCm39) missense possibly damaging 0.59
R1853:Trim72 UTSW 7 127,608,254 (GRCm39) missense probably benign 0.01
R1854:Trim72 UTSW 7 127,608,254 (GRCm39) missense probably benign 0.01
R2513:Trim72 UTSW 7 127,603,878 (GRCm39) missense possibly damaging 0.93
R4163:Trim72 UTSW 7 127,607,080 (GRCm39) missense probably benign 0.05
R5027:Trim72 UTSW 7 127,607,137 (GRCm39) missense probably damaging 0.99
R5067:Trim72 UTSW 7 127,609,139 (GRCm39) missense possibly damaging 0.86
R5276:Trim72 UTSW 7 127,603,714 (GRCm39) missense probably damaging 1.00
R5290:Trim72 UTSW 7 127,609,176 (GRCm39) missense probably benign 0.03
R5339:Trim72 UTSW 7 127,609,505 (GRCm39) missense probably benign
R5410:Trim72 UTSW 7 127,609,095 (GRCm39) missense probably damaging 1.00
R6301:Trim72 UTSW 7 127,603,786 (GRCm39) missense possibly damaging 0.93
R6594:Trim72 UTSW 7 127,609,220 (GRCm39) missense probably damaging 1.00
R6774:Trim72 UTSW 7 127,609,558 (GRCm39) missense probably damaging 1.00
R7162:Trim72 UTSW 7 127,606,821 (GRCm39) missense probably benign 0.18
R7372:Trim72 UTSW 7 127,603,858 (GRCm39) missense possibly damaging 0.63
R7937:Trim72 UTSW 7 127,609,491 (GRCm39) missense probably benign 0.03
R9228:Trim72 UTSW 7 127,608,315 (GRCm39) missense possibly damaging 0.91
R9364:Trim72 UTSW 7 127,609,173 (GRCm39) missense possibly damaging 0.60
R9668:Trim72 UTSW 7 127,609,092 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAAGAGTCTTCTCATCCCCAC -3'
(R):5'- TCTGAACCACAGTCAGAGTACC -3'

Sequencing Primer
(F):5'- AGACAGTGCGCCAGTTC -3'
(R):5'- CAACACTGATATGAAGTCCTAGCTTG -3'
Posted On 2015-09-24